Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.A912delFs

RAI1

320 papers

RefSeq Summary

This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein en...

Pfam Domains

zf-HC5HC2Haa 1825–1903UCSCPHD-like zinc-binding domain

Gene Aliases

HGNC Name

retinoic acid induced 1

HGNC Alias Symbols

DKFZP434A139; KIAA1820; MGC12824

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030665.4
p.A912delFs
c.2736delC
Surrounding Variants
1 paper
NM_030665.4
p.K911fs
c.2731_2732fs
1 paper
NM_030665.4
p.G913fs
c.2737_2738fs
1 paper
NM_030665.4
p.G913fs
c.2737_2738fs
1 paper
NM_030665.4
p.S910insFs
c.2730dupC
1 paper
NM_030665.4
p.D909G
c.2726A>G
1 paper
NM_030665.4
p.D909H
c.2725G>C
2 papers
NM_030665.4
p.E905K
c.2713G>A
1 paper
NM_030665.4
p.S921_L927insFs
c.2763_2779dup17
1 paper
NM_030665.4
p.E902*
c.2704G>T
1 paper
NM_030665.4
p.K901*
c.2701A>T
2 papers
NM_030665.4
p.E923K
c.2767G>A
3 papers
NM_030665.4
p.V925_T934delFs
c.2773_2801del29
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